| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs137853588 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs137853589 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs137853590 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs137853591 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs137853592 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs138416154 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Synonymous variant, coding sequence variant |
| rs572115942 |
G>A |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs752961445 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1270523244 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1372753669 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555467052 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555467557 |
TC>AA |
Pathogenic |
Stop gained, coding sequence variant |
| rs1567260747 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1596680941 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1596687555 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1596687577 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |